Neurofibromatosis

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Neurofibromatosis (commonly abbreviated NF, also known as von Reklinghausen disease) is a genetically-inherited disorder in which the nerve tissue grows tumors (i.e., neurofibromas) that may be benign or may cause serious damage by compressing nerves and other tissues. The disorder affects all neural crest cells (Schwann cells, melanocytes, endoneurial fibroblasts). Cellular elements from these cell types proliferate excessively throughout the body forming tumors; melanocytes also function abnormally in this disease resulting in disordered skin pigmentation and "cafe-au-lait" spots. The tumors may cause bumps under the skin, colored spots, skeletal problems, pressure on spinal nerve roots, and other neurological problems.[1][2]

Neurofibromatosis is an autosomal dominant disorder, which means that it affects males and females equally and is dominant (only one copy of the affected gene is needed to get the disorder). Therefore, if only one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. The severity in affected individuals, however, can vary (this is called variable expressivity). Moreover, in around half of cases there is no other affected family member because a new mutation has occurred.

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Classification

Neurofibromatosis type 1 (NF 1)

Neurofibromatosis type 1 (also known as "von Recklinghausen disease"[1]) is the most common form of NF, accounting for up to 90% of the cases. NF 1 has a disorder frequency of 1 in 3,000 making it more common than neurofibromatosis type 2, with a frequency of 1 in 45,000 people.[3] It occurs following the mutation of neurofibromin on chromosome 17q11.2. Neurofibromin is a tumor suppressor gene whose function is to inhibit the p21 ras oncoprotein.[3] In absence of this tumor suppressor's inhibitory contorl on the ras oncoprotein, cellular proliferation is erratic, and uncontrolled resulting in unbalanced cellular proliferation, and tumor development. The diagnosis of NF1 is made if any two of the following seven criteria are met:

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